home   genetic news   bioinformatics   biotechnology   literature   journals   ethics   positions   events   sitemap
 
  HUM-MOLGEN -> Genetic News | search  
 

Navajo Neurohepatopathy Is Caused by a Mutation in the MPV17 Gene

 
  August, 16 2006 10:54
your information resource in human molecular genetics
 
     
Navajo neurohepatopathy (NNH) is an autosomal recessive disease that is prevalent among Navajo children in the southwestern United States.

The major clinical features are hepatopathy, peripheral neuropathy, corneal anesthesia and scarring, acral mutilation, cerebral leukoencephalopathy, failure to thrive, and recurrent metabolic acidosis with intercurrent infections. Infantile, childhood, and classic forms of NNH have been described in a paper published by Karadimas et al, in the American Journal of Human Genetics (Vol. 79, pp.544-548),

Contact:

Michio Harano
Department of Neurology, Columbia University Medical Center, New York.

Table of Contents of Volume 79 (No. 3) with links to Abstracts: TOC.

(C) American Journal of Human Genetics.

Posted by: Tressie Dalaya


Message posted by: Trevor M. D'Souza

print this article mail this article
Latest News
Variants Associated with Pediatric Allergic Disorder

Mutations in PHF6 Found in T-Cell Leukemia

Genetic Risk Variant for Urinary Bladder Cancer

Antibody Has Therapeutic Effect on Mice with ALS

Regulating P53 Activity in Cancer Cells

Anti-RNA Therapy Counters Breast Cancer Spread

Mitochondrial DNA Diversity

The Power of RNA Sequencing

‘Pro-Ageing' Therapy for Cancer?

Niche Genetics Influence Leukaemia

Molecular Biology: Clinical Promise for RNA Interference

Chemoprevention Cocktail for Colon Cancer

more news ...

Generated by News Editor 2.0 by Kai Garlipp
WWW: Kai Garlipp, Frank S. Zollmann.
7.0 © 1995-2023 HUM-MOLGEN. All rights reserved. Liability, Copyright and Imprint.